Aliases for KLHL40 Gene
External Ids for KLHL40 Gene
Previous HGNC Symbols for KLHL40 Gene
Previous GeneCards Identifiers for KLHL40 Gene
This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
GeneCards Summary for KLHL40 Gene
KLHL40 (Kelch Like Family Member 40) is a Protein Coding gene. Diseases associated with KLHL40 include Nemaline Myopathy 8, Autosomal Recessive and Severe Congenital Nemaline Myopathy. An important paralog of this gene is KLHL41.
UniProtKB/Swiss-Prot for KLHL40 Gene
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a key regulator of skeletal muscle development (PubMed:23746549). The BCR(KLHL40) complex acts by mediating ubiquitination and degradation of TFDP1, thereby regulating the activity of the E2F:DP transcription factor complex (By similarity). Promotes stabilization of LMOD3 by acting as a negative regulator of LMOD3 ubiquitination; the molecular process by which it negatively regulates ubiquitination of LMOD3 is however unclear (By similarity).